| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.11120093_11123345del | CA2695202625 | LDLR | c.2105_2569+1del c.1707_*380+1del c.1727_2191+1del c.1847_2311+1del c.2101_2565+1del c.1343_1807+1del c.1724_2188+1del c.1466_1777+1del c.1466_1930+1del n.1857_2321+1del n.1964_2645+1del n.1824_2288+1del | |
| 19 | g.11120091_11123345del | CA658824575 | LDLR | c.2104-1_2569+1del c.1706-1_*380+1del c.1726-1_2191+1del c.1846-1_2311+1del c.2100-1_2565+1del c.1342-1_1807+1del c.1723-1_2188+1del c.1465-1_1777+1del c.1465-1_1930+1del n.1856-1_2321+1del n.1963-1_2645+1del n.1823-1_2288+1del | ClinVar |
| 19 | g.11120137_11124406del | CA250475 | LDLR | c.2149_2569+1062del c.1751_*380+1062del c.1771_2191+1062del c.1891_2311+1062del c.2145_2565+1062del c.1387_1807+1062del c.1768_2188+1062del c.1510_1777+1062del c.1510_1930+1062del n.1901_2321+1062del n.2008_2645+1062del n.1868_2288+1062del | ClinVar |
| 19 | g.11120137_11124409del | CA916081229 | LDLR | c.2149_2569+1065del c.1751_*380+1065del c.1771_2191+1065del c.1891_2311+1065del c.2145_2565+1065del c.1387_1807+1065del c.1768_2188+1065del c.1510_1777+1065del c.1510_1930+1065del n.1901_2321+1065del n.2008_2645+1065del n.1868_2288+1065del | ClinVar |
| 19 | g.11120137_11124409delinsCTCAGCACTTTGGG | CA2573050615 | LDLR | c.2149_2569+1065delinsCTCAGCACTTTGGG c.1751_*380+1065delinsCTCAGCACTTTGGG c.1771_2191+1065delinsCTCAGCACTTTGGG c.1891_2311+1065delinsCTCAGCACTTTGGG c.2145_2565+1065delinsCTCAGCACTTTGGG c.1387_1807+1065delinsCTCAGCACTTTGGG c.1768_2188+1065delinsCTCAGCACTTTGGG c.1510_1777+1065delinsCTCAGCACTTTGGG c.1510_1930+1065delinsCTCAGCACTTTGGG n.1901_2321+1065delinsCTCAGCACTTTGGG n.2008_2645+1065delinsCTCAGCACTTTGGG n.1868_2288+1065delinsCTCAGCACTTTGGG | |
| 19 | g.11122220_11129195del | CA2573320454 | LDLR | c.2399-954_2648-318del c.*210-954_*459-318del c.2021-954_2270-318del c.2141-954_2390-318del c.2395-954_2644-318del c.1637-954_1886-318del c.2018-954_2267-318del c.1607-954_1856-318del c.2141-954_2390-256del c.2141-954_2312-318del c.1760-954_2009-318del n.2151-954_2400-318del n.2475-954_2724-318del n.2118-954_2367-318del | |
| 19 | g.11123171_11123342delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA | CA2322777160 | LDLR | c.2399-3_2567delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.*210-3_*378delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2021-3_2189delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2141-3_2309delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2395-3_2563delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1637-3_1805delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.2018-3_2186delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1607-3_1775delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA c.1760-3_1928delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2151-3_2319delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2475-3_2643delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA n.2118-3_2286delinsCAGAGGCTGAGGCTGCAGTGGCCACCCAGGAGACATCCACCGTCAGGCTAAAGGTCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGATAGTGACAATGTCTCACCA | |
| 19 | g.11123174_11123344del | CA645509293 | LDLR | c.2399_2569del c.*210_*380del c.2021_2191del c.2141_2311del c.2395_2565del c.1637_1807del c.2018_2188del c.1607_1777del c.1760_1930del n.2151_2321del n.2475_2645del n.2118_2288del | ClinVar dbSNP |
| 19 | g.11123265_11123323del | CA2573156041 | LDLR | c.2490_2548del (p.Pro831SerfsTer17) c.*301_*359del (n.*301_*359del) c.2112_2170del (p.Pro705SerfsTer17) c.2232_2290del (p.Pro745SerfsTer17) c.2486_2544del c.1728_1786del (p.Pro577SerfsTer17) c.2109_2167del (p.Pro704SerfsTer17) c.1698_1756del (p.Pro567SerfsTer17) c.2232_2290del (p.Pro745SerfsTer26) c.1851_1909del (p.Pro618SerfsTer17) n.2242_2300del n.2566_2624del n.2209_2267del | ClinVar dbSNP |
| 19 | g.11123265_11123324delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT | CA2322777225 | LDLR | c.2490_2549delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg830=) c.*301_*360delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (n.*301_*360delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT) c.2112_2171delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg704=) c.2232_2291delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg744=) c.2486_2545delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT c.1728_1787delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg576=) c.2109_2168delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg703=) c.1698_1757delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg566=) c.1851_1910delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT (p.Arg617=) n.2242_2301delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT n.2566_2625delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT n.2209_2268delinsACCTGTTCCCGACACCTCCCGGCTGCCTGGGGCCACCCCTGGGCTCACCACGGTGGAGAT | |
| 19 | g.11123266_11123324del | CA658799127 | LDLR | c.2491_2549del (p.Pro831SerfsTer17) c.*302_*360del (n.*302_*360del) c.2113_2171del (p.Pro705SerfsTer17) c.2233_2291del (p.Pro745SerfsTer17) c.2487_2545del c.1729_1787del (p.Pro577SerfsTer17) c.2110_2168del (p.Pro704SerfsTer17) c.1699_1757del (p.Pro567SerfsTer17) c.2233_2291del (p.Pro745SerfsTer26) c.1852_1910del (p.Pro618SerfsTer17) n.2243_2301del n.2567_2625del n.2210_2268del | ClinVar dbSNP |
| 19 | g.11123275G>A | CA023653 | LDLR | c.2500G>A (p.Asp834Asn) c.*311G>A (n.*311G>A) c.2122G>A (p.Asp708Asn) c.2242G>A (p.Asp748Asn) c.2496G>A c.1738G>A (p.Asp580Asn) c.2119G>A (p.Asp707Asn) c.1708G>A (p.Asp570Asn) c.1861G>A (p.Asp621Asn) n.2252G>A n.2576G>A n.2219G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123275G>C | CA404095246 | LDLR | c.2500G>C (p.Asp834His) c.*311G>C (n.*311G>C) c.2122G>C (p.Asp708His) c.2242G>C (p.Asp748His) c.2496G>C c.1738G>C (p.Asp580His) c.2119G>C (p.Asp707His) c.1708G>C (p.Asp570His) c.1861G>C (p.Asp621His) n.2252G>C n.2576G>C n.2219G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123275G= | CA2322777229 | LDLR | c.2500G= (p.Asp834=) c.*311G= (n.*311G=) c.2122G= (p.Asp708=) c.2242G= (p.Asp748=) c.2496G= c.1738G= (p.Asp580=) c.2119G= (p.Asp707=) c.1708G= (p.Asp570=) c.1861G= (p.Asp621=) n.2252G= n.2576G= n.2219G= | |
| 19 | g.11123275G>T | CA404095250 | LDLR | c.2500G>T (p.Asp834Tyr) c.*311G>T (n.*311G>T) c.2122G>T (p.Asp708Tyr) c.2242G>T (p.Asp748Tyr) c.2496G>T c.1738G>T (p.Asp580Tyr) c.2119G>T (p.Asp707Tyr) c.1708G>T (p.Asp570Tyr) c.1861G>T (p.Asp621Tyr) n.2252G>T n.2576G>T n.2219G>T | |
| 19 | g.11123276A>C | CA404095256 | LDLR | c.2501A>C (p.Asp834Ala) c.*312A>C (n.*312A>C) c.2123A>C (p.Asp708Ala) c.2243A>C (p.Asp748Ala) c.2497A>C c.1739A>C (p.Asp580Ala) c.2120A>C (p.Asp707Ala) c.1709A>C (p.Asp570Ala) c.1862A>C (p.Asp621Ala) n.2253A>C n.2577A>C n.2220A>C | |
| 19 | g.11123276A>G | CA404095268 | LDLR | c.2501A>G (p.Asp834Gly) c.*312A>G (n.*312A>G) c.2123A>G (p.Asp708Gly) c.2243A>G (p.Asp748Gly) c.2497A>G c.1739A>G (p.Asp580Gly) c.2120A>G (p.Asp707Gly) c.1709A>G (p.Asp570Gly) c.1862A>G (p.Asp621Gly) n.2253A>G n.2577A>G n.2220A>G | |
| 19 | g.11123276A>T | CA404095272 | LDLR | c.2501A>T (p.Asp834Val) c.*312A>T (n.*312A>T) c.2123A>T (p.Asp708Val) c.2243A>T (p.Asp748Val) c.2497A>T c.1739A>T (p.Asp580Val) c.2120A>T (p.Asp707Val) c.1709A>T (p.Asp570Val) c.1862A>T (p.Asp621Val) n.2253A>T n.2577A>T n.2220A>T | |
| 19 | g.11123277C>A | CA404095278 | LDLR | c.2502C>A (p.Asp834Glu) c.*313C>A (n.*313C>A) c.2124C>A (p.Asp708Glu) c.2244C>A (p.Asp748Glu) c.2498C>A c.1740C>A (p.Asp580Glu) c.2121C>A (p.Asp707Glu) c.1710C>A (p.Asp570Glu) c.1863C>A (p.Asp621Glu) n.2254C>A n.2578C>A n.2221C>A | |
| 19 | g.11123277C>G | CA404095282 | LDLR | c.2502C>G (p.Asp834Glu) c.*313C>G (n.*313C>G) c.2124C>G (p.Asp708Glu) c.2244C>G (p.Asp748Glu) c.2498C>G c.1740C>G (p.Asp580Glu) c.2121C>G (p.Asp707Glu) c.1710C>G (p.Asp570Glu) c.1863C>G (p.Asp621Glu) n.2254C>G n.2578C>G n.2221C>G | |
| 19 | g.11123277C>T | CA505486987 | LDLR | c.2502C>T (p.Asp834=) c.*313C>T (n.*313C>T) c.2124C>T (p.Asp708=) c.2244C>T (p.Asp748=) c.2498C>T c.1740C>T (p.Asp580=) c.2121C>T (p.Asp707=) c.1710C>T (p.Asp570=) c.1863C>T (p.Asp621=) n.2254C>T n.2578C>T n.2221C>T | ClinVar gnomAD v4 |
| 19 | g.11123278A>C | CA404095289 | LDLR | c.2503A>C (p.Thr835Pro) c.*314A>C (n.*314A>C) c.2125A>C (p.Thr709Pro) c.2245A>C (p.Thr749Pro) c.2499A>C c.1741A>C (p.Thr581Pro) c.2122A>C (p.Thr708Pro) c.1711A>C (p.Thr571Pro) c.1864A>C (p.Thr622Pro) n.2255A>C n.2579A>C n.2222A>C | |
| 19 | g.11123278A>G | CA404095293 | LDLR | c.2503A>G (p.Thr835Ala) c.*314A>G (n.*314A>G) c.2125A>G (p.Thr709Ala) c.2245A>G (p.Thr749Ala) c.2499A>G c.1741A>G (p.Thr581Ala) c.2122A>G (p.Thr708Ala) c.1711A>G (p.Thr571Ala) c.1864A>G (p.Thr622Ala) n.2255A>G n.2579A>G n.2222A>G | |
| 19 | g.11123278A>T | CA404095295 | LDLR | c.2503A>T (p.Thr835Ser) c.*314A>T (n.*314A>T) c.2125A>T (p.Thr709Ser) c.2245A>T (p.Thr749Ser) c.2499A>T c.1741A>T (p.Thr581Ser) c.2122A>T (p.Thr708Ser) c.1711A>T (p.Thr571Ser) c.1864A>T (p.Thr622Ser) n.2255A>T n.2579A>T n.2222A>T | |
| 19 | g.11123279C>A | CA404095300 | LDLR | c.2504C>A (p.Thr835Asn) c.*315C>A (n.*315C>A) c.2126C>A (p.Thr709Asn) c.2246C>A (p.Thr749Asn) c.2500C>A c.1742C>A (p.Thr581Asn) c.2123C>A (p.Thr708Asn) c.1712C>A (p.Thr571Asn) c.1865C>A (p.Thr622Asn) n.2256C>A n.2580C>A n.2223C>A | dbSNP |
| 19 | g.11123279C= | CA2322777230 | LDLR | c.2504C= (p.Thr835=) c.*315C= (n.*315C=) c.2126C= (p.Thr709=) c.2246C= (p.Thr749=) c.2500C= c.1742C= (p.Thr581=) c.2123C= (p.Thr708=) c.1712C= (p.Thr571=) c.1865C= (p.Thr622=) n.2256C= n.2580C= n.2223C= | |
| 19 | g.11123279C>G | CA404095304 | LDLR | c.2504C>G (p.Thr835Ser) c.*315C>G (n.*315C>G) c.2126C>G (p.Thr709Ser) c.2246C>G (p.Thr749Ser) c.2500C>G c.1742C>G (p.Thr581Ser) c.2123C>G (p.Thr708Ser) c.1712C>G (p.Thr571Ser) c.1865C>G (p.Thr622Ser) n.2256C>G n.2580C>G n.2223C>G | |
| 19 | g.11123279C>T | CA404095307 | LDLR | c.2504C>T (p.Thr835Ile) c.*315C>T (n.*315C>T) c.2126C>T (p.Thr709Ile) c.2246C>T (p.Thr749Ile) c.2500C>T c.1742C>T (p.Thr581Ile) c.2123C>T (p.Thr708Ile) c.1712C>T (p.Thr571Ile) c.1865C>T (p.Thr622Ile) n.2256C>T n.2580C>T n.2223C>T | gnomAD v4 |
| 19 | g.11123280C>A | CA505486989 | LDLR | c.2505C>A (p.Thr835=) c.*316C>A (n.*316C>A) c.2127C>A (p.Thr709=) c.2247C>A (p.Thr749=) c.2501C>A c.1743C>A (p.Thr581=) c.2124C>A (p.Thr708=) c.1713C>A (p.Thr571=) c.1866C>A (p.Thr622=) n.2257C>A n.2581C>A n.2224C>A | |
| 19 | g.11123280C= | CA2322777231 | LDLR | c.2505C= (p.Thr835=) c.*316C= (n.*316C=) c.2127C= (p.Thr709=) c.2247C= (p.Thr749=) c.2501C= c.1743C= (p.Thr581=) c.2124C= (p.Thr708=) c.1713C= (p.Thr571=) c.1866C= (p.Thr622=) n.2257C= n.2581C= n.2224C= | |
| 19 | g.11123280C>G | CA505486991 | LDLR | c.2505C>G (p.Thr835=) c.*316C>G (n.*316C>G) c.2127C>G (p.Thr709=) c.2247C>G (p.Thr749=) c.2501C>G c.1743C>G (p.Thr581=) c.2124C>G (p.Thr708=) c.1713C>G (p.Thr571=) c.1866C>G (p.Thr622=) n.2257C>G n.2581C>G n.2224C>G | ClinVar dbSNP |
| 19 | g.11123280C>T | CA505486993 | LDLR | c.2505C>T (p.Thr835=) c.*316C>T (n.*316C>T) c.2127C>T (p.Thr709=) c.2247C>T (p.Thr749=) c.2501C>T c.1743C>T (p.Thr581=) c.2124C>T (p.Thr708=) c.1713C>T (p.Thr571=) c.1866C>T (p.Thr622=) n.2257C>T n.2581C>T n.2224C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11123281T>A | CA404095312 | LDLR | c.2506T>A (p.Ser836Thr) c.*317T>A (n.*317T>A) c.2128T>A (p.Ser710Thr) c.2248T>A (p.Ser750Thr) c.2502T>A c.1744T>A (p.Ser582Thr) c.2125T>A (p.Ser709Thr) c.1714T>A (p.Ser572Thr) c.1867T>A (p.Ser623Thr) n.2258T>A n.2582T>A n.2225T>A | gnomAD v4 |
| 19 | g.11123281T>C | CA404095326 | LDLR | c.2506T>C (p.Ser836Pro) c.*317T>C (n.*317T>C) c.2128T>C (p.Ser710Pro) c.2248T>C (p.Ser750Pro) c.2502T>C c.1744T>C (p.Ser582Pro) c.2125T>C (p.Ser709Pro) c.1714T>C (p.Ser572Pro) c.1867T>C (p.Ser623Pro) n.2258T>C n.2582T>C n.2225T>C | |
| 19 | g.11123281T>G | CA404095323 | LDLR | c.2506T>G (p.Ser836Ala) c.*317T>G (n.*317T>G) c.2128T>G (p.Ser710Ala) c.2248T>G (p.Ser750Ala) c.2502T>G c.1744T>G (p.Ser582Ala) c.2125T>G (p.Ser709Ala) c.1714T>G (p.Ser572Ala) c.1867T>G (p.Ser623Ala) n.2258T>G n.2582T>G n.2225T>G | |
| 19 | g.11123281_11123282delinsTC | CA2322777232 | LDLR | c.2506_2507delinsTC (p.Ser836=) c.*317_*318delinsTC (n.*317_*318delinsTC) c.2128_2129delinsTC (p.Ser710=) c.2248_2249delinsTC (p.Ser750=) c.2502_2503delinsTC c.1744_1745delinsTC (p.Ser582=) c.2125_2126delinsTC (p.Ser709=) c.1714_1715delinsTC (p.Ser572=) c.1867_1868delinsTC (p.Ser623=) n.2258_2259delinsTC n.2582_2583delinsTC n.2225_2226delinsTC | |
| 19 | g.11123282C>A | CA404095330 | LDLR | c.2507C>A (p.Ser836Tyr) c.*318C>A (n.*318C>A) c.2129C>A (p.Ser710Tyr) c.2249C>A (p.Ser750Tyr) c.2503C>A c.1745C>A (p.Ser582Tyr) c.2126C>A (p.Ser709Tyr) c.1715C>A (p.Ser572Tyr) c.1868C>A (p.Ser623Tyr) n.2259C>A n.2583C>A n.2226C>A | |
| 19 | g.11123282C= | CA2322777233 | LDLR | c.2507C= (p.Ser836=) c.*318C= (n.*318C=) c.2129C= (p.Ser710=) c.2249C= (p.Ser750=) c.2503C= c.1745C= (p.Ser582=) c.2126C= (p.Ser709=) c.1715C= (p.Ser572=) c.1868C= (p.Ser623=) n.2259C= n.2583C= n.2226C= | |
| 19 | g.11123282C>G | CA404095334 | LDLR | c.2507C>G (p.Ser836Cys) c.*318C>G (n.*318C>G) c.2129C>G (p.Ser710Cys) c.2249C>G (p.Ser750Cys) c.2503C>G c.1745C>G (p.Ser582Cys) c.2126C>G (p.Ser709Cys) c.1715C>G (p.Ser572Cys) c.1868C>G (p.Ser623Cys) n.2259C>G n.2583C>G n.2226C>G | |
| 19 | g.11123282C>T | CA404095337 | LDLR | c.2507C>T (p.Ser836Phe) c.*318C>T (n.*318C>T) c.2129C>T (p.Ser710Phe) c.2249C>T (p.Ser750Phe) c.2503C>T c.1745C>T (p.Ser582Phe) c.2126C>T (p.Ser709Phe) c.1715C>T (p.Ser572Phe) c.1868C>T (p.Ser623Phe) n.2259C>T n.2583C>T n.2226C>T | ClinVar dbSNP gnomAD v4 |
| 19 | g.11123284del | CA645509294 | LDLR | c.2509del (p.Arg837GlyfsTer14) c.*320del (n.*320del) c.2131del (p.Arg711GlyfsTer14) c.2251del (p.Arg751GlyfsTer14) c.2505del c.1747del (p.Arg583GlyfsTer14) c.2128del (p.Arg710GlyfsTer14) c.1717del (p.Arg573GlyfsTer14) c.1870del (p.Arg624GlyfsTer14) n.2261del n.2585del n.2228del | ClinVar dbSNP |
| 19 | g.11123283C>A | CA505486997 | LDLR | c.2508C>A (p.Ser836=) c.*319C>A (n.*319C>A) c.2130C>A (p.Ser710=) c.2250C>A (p.Ser750=) c.2504C>A c.1746C>A (p.Ser582=) c.2127C>A (p.Ser709=) c.1716C>A (p.Ser572=) c.1869C>A (p.Ser623=) n.2260C>A n.2584C>A n.2227C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11123283C= | CA2322777234 | LDLR | c.2508C= (p.Ser836=) c.*319C= (n.*319C=) c.2130C= (p.Ser710=) c.2250C= (p.Ser750=) c.2504C= c.1746C= (p.Ser582=) c.2127C= (p.Ser709=) c.1716C= (p.Ser572=) c.1869C= (p.Ser623=) n.2260C= n.2584C= n.2227C= | |
| 19 | g.11123283C>G | CA505486998 | LDLR | c.2508C>G (p.Ser836=) c.*319C>G (n.*319C>G) c.2130C>G (p.Ser710=) c.2250C>G (p.Ser750=) c.2504C>G c.1746C>G (p.Ser582=) c.2127C>G (p.Ser709=) c.1716C>G (p.Ser572=) c.1869C>G (p.Ser623=) n.2260C>G n.2584C>G n.2227C>G | |
| 19 | g.11123283C>T | CA505486999 | LDLR | c.2508C>T (p.Ser836=) c.*319C>T (n.*319C>T) c.2130C>T (p.Ser710=) c.2250C>T (p.Ser750=) c.2504C>T c.1746C>T (p.Ser582=) c.2127C>T (p.Ser709=) c.1716C>T (p.Ser572=) c.1869C>T (p.Ser623=) n.2260C>T n.2584C>T n.2227C>T | ClinVar dbSNP |
| 19 | g.11123284C>A | CA505487001 | LDLR | c.2509C>A (p.Arg837=) c.*320C>A (n.*320C>A) c.2131C>A (p.Arg711=) c.2251C>A (p.Arg751=) c.2505C>A c.1747C>A (p.Arg583=) c.2128C>A (p.Arg710=) c.1717C>A (p.Arg573=) c.1870C>A (p.Arg624=) n.2261C>A n.2585C>A n.2228C>A | COSMIC |
| 19 | g.11123284C= | CA2322777235 | LDLR | c.2509C= (p.Arg837=) c.*320C= (n.*320C=) c.2131C= (p.Arg711=) c.2251C= (p.Arg751=) c.2505C= c.1747C= (p.Arg583=) c.2128C= (p.Arg710=) c.1717C= (p.Arg573=) c.1870C= (p.Arg624=) n.2261C= n.2585C= n.2228C= | |
| 19 | g.11123284C>G | CA404095339 | LDLR | c.2509C>G (p.Arg837Gly) c.*320C>G (n.*320C>G) c.2131C>G (p.Arg711Gly) c.2251C>G (p.Arg751Gly) c.2505C>G c.1747C>G (p.Arg583Gly) c.2128C>G (p.Arg710Gly) c.1717C>G (p.Arg573Gly) c.1870C>G (p.Arg624Gly) n.2261C>G n.2585C>G n.2228C>G | |
| 19 | g.11123284C>T | CA039237 | LDLR | c.2509C>T (p.Arg837Trp) c.*320C>T (n.*320C>T) c.2131C>T (p.Arg711Trp) c.2251C>T (p.Arg751Trp) c.2505C>T c.1747C>T (p.Arg583Trp) c.2128C>T (p.Arg710Trp) c.1717C>T (p.Arg573Trp) c.1870C>T (p.Arg624Trp) n.2261C>T n.2585C>T n.2228C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11123285G>A | CA023654 | LDLR | c.2510G>A (p.Arg837Gln) c.*321G>A (n.*321G>A) c.2132G>A (p.Arg711Gln) c.2252G>A (p.Arg751Gln) c.2506G>A c.1748G>A (p.Arg583Gln) c.2129G>A (p.Arg710Gln) c.1718G>A (p.Arg573Gln) c.1871G>A (p.Arg624Gln) n.2262G>A n.2586G>A n.2229G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |